Article
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
Proceedings of the National Academy of Sciences of the United States of America - 12 Sept 2017
Nakanishi Hiroshi, Kawashima Yoshiyuki, Kurima Kiyoto, Chae Jae Jin, Ross Astin M, Pinto-Patarroyo Gineth, Patel Seema K, Muskett Julie A, Ratay Jessica S, Chattaraj Parna, Park Yong Hwan, Grevich Sriharsha, Brewer Carmen C, Hoa Michael, Kim H Jeffrey, Butman John A, Broderick Lori, Hoffman Hal M, Aksentijevich Ivona, Kastner Daniel L, Goldbach-Mansky Raphaela, Griffith Andrew J
Abstract excerpt
The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3 inflammasome leads to IL-1β secretion. Gain-of-function mutations of NLRP3 result in abnormal activation of the NLRP3 inflammasome, and cause the autosomal dominant systemic autoinflammatory disease spectrum, termed cryopyrin-associated periodic syndromes...
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